Carrozzo M, Dametto E, Fasano M E, Broccoletti R, Carbone M, Rendine S, Amoroso A
Department of Oral Medicine, Center for Oral Health Research, School of Dental Sciences, Newcastle University, Newcastle upon Tyne, UK.
Oral Dis. 2014 Apr;20(3):275-80. doi: 10.1111/odi.12106. Epub 2013 Apr 5.
The aim of this study was to analyse whether the polymorphisms of several pro- and anti-inflammatory cytokines may influence the susceptibility to predominantly oral Mucous membrane pemphigoid (MMP) in a Northern Italian population.
DNA was obtained from 41 MMP patients (29 with exclusively oral pemphigoid [OP]) and 140 unrelated bone marrow donors. Thirteen cytokine genes with 22 single-nucleotide polymorphisms (SNP) were studied by a sequence-specific PCR assay.
There was no significant difference between the patients taken together and healthy controls for any cytokine gene polymorphism studied. However, the allele A of the IL-4 receptor A (IL-4RA) was significantly more frequent in OP than controls (P < 0.05), causing an increased frequency of genotype A/A in OP patients (89.7 vs. 67.9, odds ratio: 4.11, 95% confidence intervals 1.18-14.28, P = 0.023, Pc = 0.046).
IL-4RA-1902 A/A genotype has been associated with a reduced response to IL-4 and has been found in 90% OP patient. Giving the supposed importance of IL-4 in MMP fibrotic process, our results can partially explain the low likelihood of scarring in OP patients.
本研究旨在分析几种促炎和抗炎细胞因子的多态性是否会影响意大利北部人群对主要为口腔黏膜类天疱疮（MMP）的易感性。
从41例MMP患者（29例仅患有口腔类天疱疮[OP]）和140名无关的骨髓供体中获取DNA。通过序列特异性PCR分析研究了13个细胞因子基因的22个单核苷酸多态性（SNP）。
在研究的任何细胞因子基因多态性方面，患者组与健康对照组之间均无显著差异。然而，OP患者中IL-4受体A（IL-4RA）的等位基因A频率显著高于对照组（P < 0.05），导致OP患者中A/A基因型频率增加（89.7对67.9，优势比：4.11，95%置信区间1.18 - 14.28，P = 0.023，Pc = 0.046）。
IL-4RA - 1902 A/A基因型与对IL-4的反应降低有关，且在90%的OP患者中发现。鉴于IL-4在MMP纤维化过程中的假定重要性，我们的结果可以部分解释OP患者瘢痕形成可能性较低的原因。
